Posture analysis in predicting fall-related injuries during French Navy Special Forces selection course using machine learning: a proof-of-concept study.

INTRODUCTION: Injuries induced by falls represent the main cause of failure in the French Navy Special Forces selection course. In the present study, we made the assumption that probing the posture might contribute to predicting the risk of fall-related injury at the individual level. METHODS: Before the start of the selection course, the postural signals of 99 male soldiers were recorded using static posturography while they were instructed to maintain balance with their eyes closed. The event to be predicted was a fall-related injury during the selection course that resulted in the definitive termination of participation. Following a machine learning methodology, we designed an artificial neural network model to predict the risk of fall-related injury from the descriptors of postural signal. RESULTS: The neural network model successfully predicted with 69.9% accuracy (95% CI 69.3-70.5) the occurrence of a fall-related injury event during the selection course from the selected descriptors of the posture. The area under the curve value was 0.731 (95% CI 0.725-0.738), the sensitivity was 56.8% (95% CI 55.2-58.4) and the specificity was 77.7% (95% CI 76.8-0.78.6). CONCLUSION: If confirmed with a larger sample, these findings suggest that probing the posture using static posturography and machine learning-based analysis might contribute to inform risk assessment of fall-related injury during military training, and could ultimately lead to the development of novel programmes for personalised injury prevention in military population.

Cost-utility of oral methylprednisolone in the treatment of multiple sclerosis relapses: Results from the COPOUSEP trial.

BACKGROUND: Studies have shown that oral high-dose methylprednisolone (MP) is non-inferior to intravenous MP in treating multiple sclerosis relapses in terms of effectiveness and tolerance. In order to assist with resource allocation and decision-making, its cost-effectiveness must also be assessed. Our objective was to evaluate the cost-utility of per os high-dose MP as well as the cost-savings associated with implementing the strategy. METHODS: A cost-utility analysis at 28 days was carried out using data from the French COPOUSEP multicenter, double-blind randomized controlled non-inferiority trial and the statutory health insurance reimbursement database. Costs were calculated using a societal perspective, including both direct and indirect costs. An incremental cost-effectiveness ratio was calculated and bootstrapping methods assessed the uncertainty surrounding the results. An alternative scenario analysis in which MP was administered at home was also carried out. A budgetary impact analysis was carried at five years. RESULTS: In the conditions of the trial (hospitalized patients), there was no significant difference in utilities and costs at 28 days. The incremental cost-effectiveness ratio was €15,360 per quality-adjusted life-year gained. If multiple sclerosis relapses were treated at home, oral MP would be more effective, less costly and associated with annual savings up to 25 million euros for the French healthcare system. CONCLUSIONS: Oral MP is cost-effective in the treatment of multiple sclerosis relapses and associated with major savings.

Exercise testing-based algorithms to diagnose McArdle disease and MAD defects.

OBJECTIVE: As exercise intolerance and exercise-induced myalgia are commonly encountered in metabolic myopathies, functional screening tests are commonly used during the diagnostic work-up. Our objective was to evaluate the accuracy of isometric handgrip test (IHT) and progressive cycle ergometer test (PCET) to identify McArdle disease and myoadenylate deaminase (MAD) deficiency and to propose diagnostic algorithms using exercise-induced lactate and ammonia variations. METHODS: A prospective sample of 46 patients underwent an IHT and a PCET as part of their exercise-induced myalgia and intolerance evaluation. The two diagnostics tests were compared against the results of muscle biopsy and/or the presence of mutations in PYGM. A total of 6 patients had McArdle disease, 5 a complete MAD deficiency (MAD absent), 12 a partial MAD deficiency, and 23 patients had normal muscle biopsy and acylcarnitine profile (disease control). RESULTS: The two functional tests could diagnose all McArdle patients with statistical significance, combining a low lactate variation (IHT: <1 mmol/L, AUC = 0.963, P < .0001; PCET: <1 mmol/L, AUC = 0.990, P < .0001) and a large ammonia variation (IHT: >100 µmol/L, AUC = 0.944, P = .0005; PCET: >20 µmol/L, AUC = 1). PCET was superior to IHT for MAD absent diagnosis, combining very low ammonia variation (<10 µmol/L, AUC = 0.910, P < .0001) and moderate lactate variation (>1 mmol/L). CONCLUSIONS: PCET-based decision tree was more accurate than IHT, with respective generalized squared correlations of 0.796 vs 0.668. IHT and PCET are both interesting diagnostic tools to identify McArdle disease, whereas cycle ergometer exercise is more efficient to diagnose complete MAD deficiency.

[A subacute dementia: Inflammatory cerebral amyloid angiopathy]. / Une démence rapidement progressive: l'angiopathie amyloïde cérébrale subaiguë inflammatoire.

We report a case of inflammatory cerebral amyloid angiopathy (CAA) that led to rapid cognitive decline, seizures, visual hallucinations, hyperproteinorrachia and right hemispheric leukopathy. Brain biopsy gave the diagnosis of CAA. Although no inflammatory infiltrate was found in the biopsy sample, corticosteroids led to a regression of the radiological lesions without significant clinical improvement. CAA is a rare disease, defined by lesions of classical cerebral amyloid angiopathy and perivascular infiltrates in contact with the affected vessels. In cases of rapidly progressive dementia associated with leukopathy, inflammatory amyloid angiopathy should be considered as cognitive disorders may improve after immunosuppressive therapy.

[Impact of headache among studied military population in Afghanistan deployed in the Kabul military field hospital]. / Impact des céphalées parmi le personnel militaire déployé au sein de l'hôpital médico-chirurgical de Kaboul.

INTRODUCTION: Headaches are a common reason for consultation with a prevalence of 30%. Few data exist for military personnel, including in situations of war operations. The main objective of this work was to measure the evolution of the impact of headache in such a context. MATERIALS AND METHODS: Two hundred and one personnel deployed in the Kaïa military field hospital in Afghanistan were recruited. A questionnaire designed to recognize headaches, supported by two quality of life scales (MIDAS and HIT-6) and a stress questionnaire were filled out before departure and upon return from missions. DISCUSSION: Sixty-three patients with headache were initially identified, of whom 52 remained symptomatic during the mission. The average total score of MIDAS before departure was 4 days and fell to 1.4 days upon return, with a mean measured change of 3.3 days. For HIT-6, the mean total score was 51.2 points initially and 51.9 points at the end of the mission with a mean change of-0.3 points. Nine patients without headache initially became symptomatic: MIDAS and HIT-6 were not affected. CONCLUSION: Thus, the impact of headache in the particular context of presence in a theater of operations was low: improved MIDAS score and the lack of influence on the HIT-6 score are underlined.

High completeness of the brest stroke registry evidenced by analysis of sources and capture-recapture method.

BACKGROUND: Population-based stroke registries are necessary to evaluate the precise burden of stroke. The methodology used in the Brest Stroke Registry and an estimation of its completeness are described. METHODS: 'Hot pursuit' as well as 'cold pursuit' were used, and five sources of identification were included: emergency wards, brain imaging, practitioners, death certificates and hospital-based electronic research. Ascertainment for each case was certified by a neurologist. Inclusion criteria were: (1) age >15 years; (2) a stroke defined by WHO criteria or all neurological deficits lasting at least 1 h. Completeness was estimated using capture-recapture method. RESULTS: For 2008, 2009 and 2010, 851, 898, 823 patients were collected, respectively. The number of sources of identification per patient was as follows: one source: 30.8, 24.1 and 18.7%; two sources: 54.5, 42.9 and 31.0%; three sources: 13.4, 30.1 and 46%; four sources: 1.3, 3.0 and 3.8%. Capture-recapture analysis showed data completeness over 90%. Standardized cumulative first-ever stroke incidence using a world standard population was 87 in 2008, 87 in 2009 and 84 in 2010. CONCLUSIONS: Case ascertainment by a neurologist, numerous sources, as well as 'hot' and 'cold' pursuit can provide a reliably large data set suitable for further epidemiological studies.

[Systematic implementation of transthoracic echocardiography, transesophageal echocardiography and 24-hour Holter ECG for the detection of cardiac sources of embolism in patients with stroke or transient ischemic attack. A retrospective study of 220 patients]. / Rentabilité diagnostique de l'échographie cardiaque transthoracique, transœsophagienne et du Holter ECG réalisés à titre systématique lors du bilan étiologique d'un premier accident vasculaire cérébral ischémique. Étude rétrospective de 220 patients.

INTRODUCTION: Embolism of cardiac origin accounts for around 20% of ischemic strokes. ECG and transthoracic echocardiography (TTE) are commonly obtained during the evaluation of patient of ischemic stroke but specific indications for the transesophageal (TEE) echocardiography and 24-hour Holter ECG (Holter) remain uncertain. OBJECTIVES: The aim of this study is to report the contribution of TTE, TEE and Holter performed as a routine during the evaluation of patients with ischemic stroke (IS) or transient ischemic attack (TIA). METHODS: This is a retrospective single-center study of 220 patients hospitalized between 1st January 2007 and 31st December 2010 for a first IS or TIA. RESULTS: One hundred and forty-three IS and 77 TIA are identified. The average age of patients was 66 years (18-88 years). TTE/TEE/24-hour Holter allowed the diagnosis of cardiac sources of embolism in 135 patents (61.3%). TTE/TEE identified potential source of cardiogenic embolism in 126 patients (52.2%). Twenty four-hour Holter ECG tracked supraventricular arrhythmia in 15 patients (6.7%), 9 (4%) which had non-contributory ultrasound assessment. CONCLUSION: The systematic implementation of TTE/TEE/Holter is useful for identifying potential sources of cardiogenic embolism. The performance of TEE remains above the TTE. Holter should be recommended because it is a cost effective and non-invasive tool.

The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease.

Pompe disease is a rare autosomal recessive muscle lysosomal glycogenosis, characterised by limb-girdle muscle weakness and frequent respiratory involvement. The French Pompe registry was created in 2004 with the initial aim of studying the natural history of French patients with adult Pompe disease. Since the marketing in 2006 of enzyme replacement therapy (alglucosidase alfa, Myozyme(®)), the French Pompe registry has also been used to prospectively gather the biological and clinical follow-up data of all adult patients currently treated in France. This report describes the main clinical and molecular features, at the time of inclusion in the French registry, of 126 patients followed up in 21 hospital-based neuromuscular or metabolic centres. Sixty-five men and 61 women have been included in the registry. Median age at inclusion was 49 years, and the median age at onset of progressive limb weakness was 35 years. Fifty-five percent of the patients were walking without assistance, 24% were using a stick or a walking frame, and 21% were using a wheelchair. Forty-six percent of the patients needed ventilatory assistance, which was non-invasive in 35% of the cases. When performed, muscle biopsies showed specific features of Pompe disease in less than two-thirds of the cases, confirming the importance of acid alpha-glucosidase enzymatic assessment to establish the diagnosis. Molecular analysis detected the common c.-32-13T>G mutation, in at least one allele, in 90% of patients. The French Pompe registry is so far the largest country-based prospective study of patients with Pompe disease, and further analysis will be performed to study the impact of enzyme replacement therapy on the progression of the disease.

[Exercise-induced muscle pain due to phosphofrutokinase deficiency: Diagnostic contribution of metabolic explorations (exercise tests, 31P-nuclear magnetic resonance spectroscopy)]. / Intolérance musculaire à l'effort par déficit en phosphofructokinase : apport au diagnostic du bilan métabolique musculaire (tests d'effort, spectroscopie RMN du P31).

INTRODUCTION: Muscle phosphofructokinase deficiency, the seventh member of the glycogen storage diseases family, is also called Tarui's disease (GSD VII). METHODS: We studied two patients in two unrelated families with Tarui's disease, analyzing clinical features, CK level, EMG, muscle biopsy findings and molecular genetics features. Metabolic muscle explorations (forearm ischemic exercise test [FIET]; bicycle ergometer exercise test [EE]; 31P-nuclear magnetic resonance spectroscopy of calf muscle [31P-NMR-S]) are performed as appropriate. RESULTS: Two patients, a 47-year-old man and a 38-year-old woman, complained of exercise-induced fatigue since childhood. The neurological examination was normal or showed light weakness. Laboratory studies showed increased CPK, serum uric acid and reticulocyte count without anemia. There was no increase in the blood lactate level during the FIET or the EE although there was a light increase in the respiratory exchange ratio during the EE. 31P-NMR-S revealed no intracellular acidification or accumulated intermediates such as phosphorylated monoesters (PME) known to be pathognomic for GSD VII. Two new mutations were identified. DISCUSSION: FIET and EE were non-contributive to diagnosis, but 31P-NMR provided a characteristic spectra of Tarui's disease, in agreement with phosphofructokinase activity level in erythrocytes. Muscle biopsy does not always provide useful information for diagnosis. In these two cases, genetic studies failed to establish a genotype-phenotype correlation. CONCLUSION: The search for phosphofructokinase deficiency should be continued throughout life in adults experiencing fatigability or weakness because of the severe disability for daily life activities caused by the late onset form.

[Dysautonomic syndrome of the face with Harlequin sign and syndrome: Three new cases and a review of the literature]. / Syndromes dysautonomiques du visage avec signe et syndrome d'Harlequin : étude de trois cas et revue de la littérature.

INTRODUCTION: Harlequin phenomenon is characterized by a strictly unilateral erythrosis of the face with flushing and hyperhydrosis, and controlaterally a pale anhydrotic aspect. This syndrome can occur alone or associated to other dysautonomic phenomena such as Horner syndrome, Adie syndrome or Ross syndrome. PATIENTS AND METHODS: We report three cases: two patients presented a Harlequin sign, associated with Horner syndrome for one and Ross syndrome for the second. The etiologic investigation was normal, allowing recognizing the idiopathic nature of the disorder. For the third patient, Harlequin syndrome was observed in a neoplastic context due to breast cancer, metastatic dissemination, and bone metastases involving the right side of the T2 body. DISCUSSION: We reviewed the literature: 108 cases have been described. This syndrome occurred alone in 48 patients and was associated with other dysautonomic syndromes such as Horner syndrome in 38 patients, Holmes Adie syndrome in six, and Ross syndrome in six; both Ross and Holmes Adie syndrome were associated five cases and associations were not reported in five patients. The pathophysiological mechanisms of this autonomic cranial neuropathy, the possible etiologies, and therapeutic management were discussed. CONCLUSION: Harlequin phenomenon with flushing and unilateral hyperhydrosis is rare, occurring alone or in combination with other autonomic syndromes of the face. Idiopathic in two-thirds of cases, Harlequin phenomenon does not require specific treatment; sympathectomy may be discussed in the severe cases with a significant social impact.

[Cannabis and myocardial infarction without angiographic stenosis in young patient: guilty or not guilty? A case report]. / Cannabis et infarctus du myocarde du sujet jeune : association fortuite ? À propos d'une observation.

Cannabis is the most consumed drug in France, particularly in young adults. Few reports have suggested a causal role of cannabis in the development of cardiovascular events. We describe one case of 26-year-old man, cannabis and tobacco smoker, admitted with recurrent ischemic stroke cause by post-myocardial infarction left ventricular thrombus. Coronary arteries were angiographicaly normal and etiological tests were negative. We suggest the possible relationship between marijuana use with coronary heart disease.

Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7.

Congenital myasthenic syndromes (CMSs) are a heterogeneous group of diseases caused by genetic defects affecting neuromuscular transmission. Mutations of DOK7 have recently been described in recessive forms of CMS. Dok-7 is a cytoplasmic post-synaptic protein co-activator of the muscle-specific receptor-tyrosine kinase (MuSK) involved in neuromuscular synaptogenesis and maintenance. We report clinical, morphological and molecular data on 15 patients with mutations in DOK7. Eleven different mutations (5 novel) were identified and all patients but one were found to carry at least the common c.1124_1127dupTGCC mutation. Patients with DOK7 mutations have a particular limb-girdle pattern, without tubular aggregates but a frequent lipidosis on the muscle biopsy. Changes in pre- and post-synaptic compartments of the neuromuscular junction were also observed in muscle biopsies: terminal axons showed defective branching which resulted in a unique terminal axon contacting en passant postsynaptic cups. Clinical features, muscle biopsy findings or response to therapy were confusing in several patients. Characterization of this distinct phenotype is essential to provide clues for targeted genetic screening and to predict the therapeutic response to anticholinesterase treatments or ephedrine as has been suggested.

[Chronic sciatic pain caused by sciatic nerve schwannoma]. / Sciatalgie chronique révélant un schwannome du nerf sciatique.

Schwannomas are tumors with slowly progressive symptoms, more often painful than associated with neurologic deficits. Involvement of the sciatic nerve mimics chronic sciatic pain due to a herniated disk. If there is no lumbar pain and lumbar MRI is normal, the sciatic nerve must be clinically and radiologically examined all along its course. We report a patient with chronic sciatica in whom physical examination revealed a painful mass with a Tinel sign in her back thigh. MRI showed a multilobular mass along the sciatic nerve. Surgery of this plexiform schwannoma allowed a complete relief from pain.

[Miliary cerebral Histoplasma capsulatum in an HIV-negative patient]. / Miliaire cérébrale à Histoplasma capsulatum chez un patient séro-négatif pour le VIH.

A 58 year-old man who lived in Africa for 17 years, presented, four years after returning to western France, acute confusion and weight loss. He had no fever and no immunosuppression. Clinical examination revealed Babinski sign, mucosal ulcerations of the mouth and hepatomegaly. The lumbar puncture revealed a meningitis and MRI showed a few parenchymal enhancing masses in the brain. Stereotaxic biopsies were performed. Specific culture and coloration were positive for the diagnosis of cerebral histoplasmosis. At the beginning, antifungal treatment with amphotericin B and itraconazole provided improvement. But seizures occurred and the treatment by carbamazepine induced decreased blood level of itraconazole. Despite itraconazole IV the patient died. This observation illustrates the difficulties in diagnosis and treatment of cerebral histoplasmosis and the various patterns of drug interactions.

[Disseminated and central nervous system Histoplasma capsulatum infection mimicking neoplasm: difficulties in diagnosis, failure in management]. / Miliaire cérébrale pseudonéoplasique révélatrice d'une histoplasmose disséminée à Histoplasma capsulatum: difficultés diagnostiques, échec thérapeutique.

INTRODUCTION: Infection with Histoplasma capsulatum (Hc) is a rare importing disease in metropolitan France, the most often minor but sometimes letal in its spread form. EXEGESIS: A 58 years old French man, HIV seronegative, was admitted for an alteration of its general condition, disorder and buccal ulcerations. He had a prostate cancer history and came back in France after 17 years in Central Africa. The imaging showed numerous cerebral nodes, a bilateral adrenal tumor, and pulmonary calcifications. Histoplasmosis diagnosis has been done after neurosurgical cerebral biopsy which displayed characteristic Hc. The sick man died 4 months later with multivisceral failures, in spite of amphotericine B treatment followed by oral then intraveinous itraconazole. CONCLUSION: Even in an old tropical residence, ones can be able to conjure up a deep exotic fungal infection, and most specifically Hc histoplasmosis, in front of meaningful multivisceral lesions. Disseminated histoplasmosis (HD) with neurological location is misleading, mimicking tuberculosis or cancer. In order to obtain formal mycological evidence, ones have to make adapted biopsies. Antifungal agents must take into account medicinal interaction. Therefore, prognosis is bad, according to inoculum, immunodeficiency, age of disease and diagnosis delay.

[Suprascapular palsy: a complication of surgical positioning?]. / Paralysie sus-scapulaire: une complication de la posture opératoire?

We report a case of persisting suprascapular nerve palsy after surgery under general anaesthesia of short duration in a conventional position. Surgical exploration, eight months later, showed a suprascapular notch narrowed by a hypertrophied and calcified superior transverse ligament. Such a lesion and the practice of volley-ball by the patient are in favour of a pre-existing infraclinical neuropathy.